Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

BACKGROUND: SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation. CASE PRESENTATION: We present an 8-year-old Chinese patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Du, Caiqi, Wang, Feiya, Li, Zhuoguang, Zhang, Mini, Yu, Xiao, Liang, Yan, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811983/
https://www.ncbi.nlm.nih.gov/pubmed/35114986
http://dx.doi.org/10.1186/s12920-022-01167-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811983/
https://www.ncbi.nlm.nih.gov/pubmed/35114986
http://dx.doi.org/10.1186/s12920-022-01167-2

Ejemplares similares